Osteopetrosis as a rare cause of anaemia in paediatric patients: a case report

• Main Authors: Anna Fałkowska, Janina Marta Choma, Dominik Grabowski, Katarzyna Drabko
• Format: Article
• Language: English
• Published: Medical Communications Sp. z o.o. 2019-11-01
• Series: Pediatria i Medycyna Rodzinna
• Subjects: anaemia; haematopoiesis; osteopetrosis; albers-schönberg disease; marble bone disease
• Online Access: http://www.pimr.pl/index.php/issues/2019-vol-15-no-3/osteopetrosis-as-a-rare-cause-of-anaemia-in-paediatric-patients-a-case-report?aid=1389

Anaemia is a common manifestation in paediatric patients. The most common cause of anaemia is iron deficiency. In differential diagnosis not only the most common diseases resulting in haemoglobin decrease should be considered, but also those less common. In an outpatient care physician’s practice, interview, physical examination and routine periodic preventative examinations play a very important role. They make it possible to detect chronic diseases, including congenital metabolic diseases. These include osteopetrosis, which manifests with impaired haematopoiesis. Osteopetrosis also causes stunted growth, bone deformation and neurological disorders. We present the case of a boy with diagnosed osteopetrosis, in whom anaemia was the first manifestation of the disease.